Canonical Allele Identifier: CA368177719
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92501980-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92501980T>G , CM000669.2:g.92501980T>G GRCh38
NC_000007.13:g.92131294T>G , CM000669.1:g.92131294T>G GRCh37
NC_000007.12:g.91969230T>G NCBI36
NG_008341.1:g.31552A>C
NG_008341.2:g.31552A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2326A>C MANE Select ENSP00000248633.4:p.Thr776Pro
ENST00000248633.8:c.2326A>C ENSP00000248633.4:p.Thr776Pro
ENST00000428214.5:c.2155A>C ENSP00000394413.1:p.Thr719Pro
ENST00000438045.5:c.1360A>C ENSP00000410438.1:p.Thr454Pro
ENST00000484913.5:n.2365A>C
ENST00000496092.1:n.124A>C
ENST00000496420.5:n.2002A>C
NM_000466.2:c.2326A>C NP_000457.1:p.Thr776Pro
NM_001282677.1:c.2155A>C NP_001269606.1:p.Thr719Pro
NM_001282678.1:c.1702A>C NP_001269607.1:p.Thr568Pro
XM_005250433.3:c.577A>C XP_005250490.1:p.Thr193Pro
XR_242246.3:n.2422A>C
XM_017012319.2:c.577A>C XP_016867808.1:p.Thr193Pro
XR_001744808.2:n.1353A>C
XR_242246.5:n.2373A>C
NM_000466.3:c.2326A>C MANE Select NP_000457.1:p.Thr776Pro
NM_001282677.2:c.2155A>C NP_001269606.1:p.Thr719Pro
NM_001282678.2:c.1702A>C NP_001269607.1:p.Thr568Pro